NEURO

We read with great interest the article of Wu et al. [1] regarding acute sensorineural hearing loss in patients with vestibular schwannomas (VS) early after fractionnated Cyberknife radiosurgery (RS). The reported prevalence was 8.6% as considered in the first 6 months after RS. Hearing improvement was noted in only one patient after 3 months time. The authors postulate that this is related to damage to the cochlear nerve. Furthermore, they postulate that tumors measuring less than 1.45 cm with serviceable hearing should be observed. from Journal of the Neurological Sciences http://bit.ly/2L0Drw7

We thank Dr. Tuleasca and the colleagues' suggestion about our paper entitled “Acute sensorineural hearing loss in patients with vestibular schwannoma (VS) early after cyberknife radiosurgery” [1]. They mentioned their experience about adverse radiation events (ARE) during the first months after gamma knife radiosurgery based on their paper published on the proceedings of the 18th international meeting of the Leksell gamma knife society [2]. They reported that the incidence of ARE was 22% including vertigo, gait disturbance, exacerbation of pre-existing hearing loss, etc. from Journal of the Neurological Sciences http://bit.ly/2V7fCGu

Spinal cord demyelination is common in multiple sclerosis (MS) and has been linked to increased disability and progressive clinical course. Spinal cord atrophy shows an especially close relationship to MS-related physical disability, though the relationship between spinal cord lesions/atrophy and health-related quality of life (QOL) has not been explored. from Journal of the Neurological Sciences http://bit.ly/2L0DoAr

Multiple sclerosis (MS) is a progressive neurologic disease, which usually affects younger individuals and causes significant permanent disability. It is believed that pathophysiology of MS possesses two arms: inflammatory demyelination and neurodegeneration with resultant brain and spinal cord tissue atrophy due to significant tissue loss. In the past two decades, the role of central nervous system (CNS) tissue atrophy has been emerging as a significant marker of disability in MS patients and substantial research efforts have been focused on the gray matter as well as white matter volume loss in the context of the neurodegenerative arm of this progressive neurologic disease. from Journal of the Neurological Sciences http://bit.ly/2V7fAym

We read with interest the article “Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study” by Rossi et al. [1]. from Journal of the Neurological Sciences http://bit.ly/2KN4P0p

The hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic variant found in individuals with sporadic amyotrophic lateral sclerosis (ALS), occurring at a frequency of between 7 and 11% in cohorts of European ancestry. While limited data suggest that C9-expansions (>30 repeats) are less frequent in African-Americans with ALS, there is no data on the frequency of C9-expansions among ALS subjects residing in Africa. We therefore investigated the frequency of this expansion mutation (using repeat-primed PCR) in a cohort of 143 South Africans (SA) with ALS. from Journal of the Neurological Sciences http://bit.ly/2KXVSl5

Approximately 30% of Alzheimer's disease (AD) patients are misdiagnosed due to overlapping and evolving clinical features. In particular, the distinction of AD from behavioural variant frontotemporal dementia (bvFTD) can be challenging. Measures of visuospatial ability, which rely on parietal lobe function, show promise as markers of AD as the parietal lobe is preferentially affected early in the disease course. We hypothesise that traditional measures of visuospatial function may help distinguish AD from bvFTD. from Journal of the Neurological Sciences http://bit.ly/2GjhBOq

from Neurology recent issues http://bit.ly/2Ijg7as

Striking changes in the demographic pattern of multiple sclerosis (MS), with increasing prevalence and incidence over time, especially in women, strongly indicate an influence of modifiable exposures on the disease. 1 In understanding these important clues, it is difficult to pinpoint which of the many environmental, lifestyle, and sociodemographic changes that have occurred over the past decades such as higher smoking and obesity rates and earlier age at puberty are responsible. Genome-wide association studies (GWAS) have been highly successful in identifying genetic factors underlying many human traits, including >200 known genetic risk factors for MS. 2 Environmental risk factors, including exposure to external or physiologic factors, have been much harder to pinpoint. from Neurology recent issues http://bit.ly/2XdI9Ys

Treatment of multiple sclerosis (MS) has undergone development unprecedented in neurology. With 14 therapeutic options now available to neurologists and their patients, making an accurate choice of the most suitable agent that will protect a patient's CNS from inflammatory damage is of paramount importance. In the absence of head-to-head randomized trials of most of the available therapies, studies using large longitudinal data collections from registries provide us with invaluable information about the relative effectiveness of immunotherapies in different contexts. from Neurology recent issues http://bit.ly/2Iny7QY

Recent molecular and genetic advances in the understanding of the pathophysiology of Parkinson disease (PD) opened new possible therapeutic perspectives moving toward a precision medicine approach. 1 Nevertheless, an unmet need in PD is an integrated approach to develop a global health strategy to improve safety and quality care. One approach should promote an active role for patients with PD and caregivers in their interaction with health care professionals. 2 Such a model requires a redefinition of the patient–neurologist relationship, but also a nurse-focused strategy in which patients, working as partners with health care professionals, derive benefit from multifaceted, continuous management. The natural history of PD, as well as changes induced by pharmacologic treatment, make management of this chronic disease complex, requiring multidisciplinary approaches. For these reasons, professionals must collaborate to make coordinated decisions and share responsibilities. 3 Indeed, fo...

The study by Glaze et al. 1 in this issue of Neurology ® provides a remarkable glimpse into the future of targeted treatments for neurodevelopmental disorders. The investigators are to be commended for their well-designed clinical trial of trofinetide, an analog of the amino terminal tripeptide of the insulin-like growth factor 1, in the treatment of girls with Rett syndrome, a rare severe disabling disorder for which there is no current treatment. Their study provides Class I evidence that trofinetide is well-tolerated and effective at ameliorating specific core symptoms of Rett syndrome. This article is a positive light in a sea of negative studies for other neurodevelopmental disorders. 2–5 from Neurology recent issues http://bit.ly/2IlEBzW

The KLOTHO gene codes for a transmembrane protein that also has 2 soluble forms. Its discovery in mice in 1997 was highly exciting because KLOTHO knockout mice had a short lifespan and showed a phenotype reminiscent of human aging. 1 In humans, a KLOTHO polymorphism called KL-VS is associated with extreme longevity. 2 from Neurology recent issues http://bit.ly/2XdI476

Articles appearing in the February 2019 issue from Neurology recent issues http://bit.ly/2Ikt3Nn

There is a bidirectional communication between the nucleus and the cytoplasm through highly regulated nucleocytoplasmic transport. This process allows the transport of proteins, RNAs, and ribonucleoproteins across the nuclear envelope via the nuclear pore complexes. The nuclear pore complexes are large macromolecular complexes composed of highly conserved proteins called nucleoporins (Nups). Proteins and RNAs are transported across the nuclear pore after binding of cargo transport receptors that interact with specific hydrophobic amino acid repeats of Nups that form a meshwork within the nuclear pore. These transporters include importins that recognize nuclear localization signals (NLS) in their cargo and mediate transport from the cytoplasm to the nucleoplasm and exportins that recognize nuclear export signals (NES) in their cargos and transport their cargo from the nucleus to the cytoplasm. Whereas nucleocytoplasmic transport largely involves protein–protein interactions between tran...

Patients presenting with a clinical phenotype indicative of neuromyelitis optica spectrum disease (NMOSD) including its limited variants such as recurrent optic neuritis (ON) or longitudinally extensive transverse myelitis negative for AQP-4 antibodies may test positive for immunoglobulin G antibodies against myelin oligodendrocyte glycoprotein (MOG), a transmembrane protein expressed on oligodendrocytes and the outer layers of the myelin sheath. MOG antibody-associated autoimmunity has gained increasing attention over recent years due to its clinical overlap with NMOSD, despite the latter being considered an autoimmune astrocytopathy. Anti-MOG antibody-positive patients show a relapsing disease course that can lead to substantial visual loss and spinal cord involvement. 1–3 Data on therapy in MOG antibody-associated disease as of yet is limited, but similar to NMOSD, it appears critical to start an efficacious treatment early in order to prevent severe functional sequelae includi...

A supramodal bridge that links 2 minds, the mirror neuron network has been described as the potential neural basis of empathy and compassion. Mirror neurons may allow us to absorb and reflect the actions, intentions, and emotions of others, while atypical mirror networks may challenge those with neurodivergent minds to depend on inference. 1 This shattered mirror's image is distorted, its intact meaning lost: in the 2 juxtaposed mirrors, the reflections are infinite, and miscommunications between 2 minds are likewise infinite and inexorable. Yet, a reflection nevertheless persists (figures 1 and 2). from Neurology recent issues http://bit.ly/2XdHXII

A 19-year-old man presented with a 1.5-month history of hypokinetic dysarthria, slight hypokinesia, and micrographia. Brain MRI showed fluid-attenuated inversion recovery (FLAIR) (figure 1) and T2 (figure 2) hyperintensities in the medulla oblongata and the mesencephalon. Copper tests reported high 24-hour urinary copper excretion, low serum copper, low ceruloplasmin, and high exchangeable copper. Kayser-Fleischer rings were present. ATP7B genetic analysis confirmed the diagnosis of Wilson disease (WD) with the presence of 2 mutations. from Neurology recent issues http://bit.ly/2IjfYDW

(Clara, 33 years old, unknown leukodystrophy, rapidly progressive motor impairment with bulbar involvement, disappears undiagnosed in the kinetic of her sigh) from Neurology recent issues http://bit.ly/2XdIkTC

In the editorial "The systolic blood pressure sweet spot after intracerebral hemorrhage: 130 mm Hg?" Drs. Kapinos and Hanley discussed data suggesting that a systolic blood pressure (BP) of 130 mm Hg may be an ideal lower limit for BP reduction after spontaneous intracerebral hemorrhage. In response, Dr. Munakomi cautions that aggressive BP reduction may promote ischemia in patients with autoregulatory shifts, and that the oxygen extraction fraction (OEF) reserve and related measures may help estimate the optimal BP for patients. from Neurology recent issues http://bit.ly/2Imf0He